Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Journal of inherited metabolic disease - 1 Jan 1998

Tuchman M, Morizono H, Rajagopal B S, Plante R J, Allewell N M

Abstract excerpt

Ornithine transcarbamylase (OTCase) deficiency, the most common inherited urea cycle disorder, is transmitted as an X-linked trait. The clinical phenotype in affected males as well as heterozygous females shows a spectrum of severity ranging from neonatal hyperammonaemic coma to asymptomatic adults. The ornithine transcarbamylase enzyme is a trimer with three active sites per holoenzyme molecule, each of which is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Share to Sequence Alignment

Source

Identifiers

PMID: 9686344
DOI: 10.1023/a:1005353407220

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.PMID 9686344Read ↗

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy maleSemantic proximity Read ↗

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity Read ↗

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsSemantic proximity Read ↗

Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.Semantic proximity Read ↗

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.